Canonical Allele Identifier: CA16042329
Gene: ACADM HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 373420
ClinVar RCV Id: RCV000412735
dbSNP Id: rs1057518408

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.75749449A>G , CM000663.2:g.75749449A>G GRCh38
NC_000001.10:g.76215134A>G , CM000663.1:g.76215134A>G GRCh37
NC_000001.9:g.75987722A>G NCBI36
NG_007045.2:g.30092A>G

Transcript Alleles

HGVS Amino-acid change
NM_000016.5:c.739A>G VV NP_000007.1:p.Thr247Ala
NM_001127328.2:c.751A>G VV NP_001120800.1:p.Thr251Ala
NM_001286042.1:c.631A>G VV NP_001272971.1:p.Thr211Ala
NM_001286043.1:c.838A>G VV NP_001272972.1:p.Thr280Ala
NM_001286044.1:c.172A>G VV NP_001272973.1:p.Thr58Ala
ENST00000370834.9:c.838A>G ENSP00000359871.5:p.Thr280Ala
ENST00000370841.8:c.739A>G ENSP00000359878.4:p.Thr247Ala
ENST00000420607.6:c.751A>G ENSP00000409612.2:p.Thr251Ala
ENST00000525808.5:c.*325A>G ENSP00000434823.1:p.=
ENST00000526129.5:c.*523A>G ENSP00000434092.1:p.=
ENST00000526196.5:c.*507A>G ENSP00000431953.1:p.=
ENST00000526930.1:n.512A>G
ENST00000529059.5:n.648A>G
ENST00000530953.6:c.*236A>G ENSP00000431372.1:p.=
ENST00000532207.5:n.469A>G
ENST00000532509.5:c.*503A>G ENSP00000432522.1:p.=
ENST00000534334.5:c.*323A>G ENSP00000435584.1:p.=
ENST00000541113.5:c.631A>G ENSP00000442324.1:p.Thr211Ala